Branchio-oculo-facial syndrome: case report

Branchio-oculo-facial (BOF) syndrome is a rare dominant autosomal disorder. Less than 50 cases have been reported up to now. We present a Chinese boy with BOF syndrome who has characteristic features of bilateral postauricular cervical branchial cysts, bilateral complete cleft of primary palate, bilateral lacrimal duct obstruction and bilateral low set ears with posterior rotation. His intelligence and growth were normal at the age of 7 years. This is the first case reported in Taiwan. The overlap between BOR syndrome and BOF syndrome include external ear abnormalities with hearing loss, lacrimal duct obstruction, branchial cleft remnants, and renal or ureteral defects. The relationship between these two syndromes is still unclear. Contiguous gene deletion phenomenon, different mutations in the same gene, or distinct entities all have been proposed. The literature was reviewed and discussed, especially the reports about the gene EYA1 (eyes absent-like 1), which is responsible for branchio-oto-renal syndrome. If we can detect mutations of EYA1 gene in BOF patients, this could be the key for solving the above debate.